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Description of the mutations of HRAS (NM_005343) Mutants

Reference:

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
Nat. Genet. 2005; 37:1038-1040

Keys for Mutation Description

A.A. substitution
Truncation
NT deletion
NT insertion

R280G: Arg at aa-position 280 mutated to Gly
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted

SKU	Mutation Description	Affected Codon#	Affected NT#	Description	Effect	Affected Protein Domain
RC400125	G12D	12	c.35	G>A	missense	GTP binding
RC400126	G12S	12	c.34	G>A	missense	GTP binding
RC400127	G12R	12	c.34	G>C	missense	GTP binding
RC400128	G12C	12	c.34	G>T	missense	GTP binding
RC400129	G12V	12	c.35	G>T	missense	GTP binding
RC400130	Q61H	61	c.183	G>T	missense	GTP binding
RC400131	Q61L	61	c.182	A>T	missense	GTP binding
RC400132	Q61R	61	c.182	A>G	missense	GTP binding
RC400133	Q61K	61	c.181	C>A	missense	GTP binding
RC400134	G13C	13	c.37	G>T	missense	GTP binding
RC400135	G13R	13	c.37	G>C	missense	GTP binding
RC400136	E62G	62	c.185	A>G	missense	GTP binding
RC402764	G12A	12	35	G>C	Cosello syndrome
RC402765	G12D	12	35	G>A	Cosello syndrome
RC402766	G12S	12	34	G>A	Cosello syndrome
RC402767	G12C	12	34	G>T	Cosello syndrome
RC402768	G13D	13	38	G>A	Cosello syndrome
RC402769	G13C	13	37	G>T	Cosello syndrome
RC402770	Q22K	22	64	C>A	Conenil myophy wih exess of musle spindles
RC402771	T58I	58	173	C>T	Cosello syndrome
RC402772	E63K	63	187	G>A	Conenil myophy wih exess of musle spindles
RC402773	K117R	117	350	A>G	Cosello syndrome
RC402774	A146V	146	437	C>T	Cosello syndrome
RC402775	A146T	146	436	G>A	Cosello syndrome

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Description of the mutations of HRAS (NM_005343) Mutants